Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal systemic arterial morphology (HP:0011004)

Parent Node:
Abnormal vertebral artery morphology (HP:0030321)

..Starting node
..Vertebral artery hypoplasia (HP:0030322)

Term ID:

30322

Name:

Vertebral artery hypoplasia

Synonym:

Definition:

Underdevelopment of the vertebral artery.

Comments:

Reference:

HP:0030322

Genes and Diseases:

Child Nodes:

........

Unilateral vertebral artery hypoplasia (HP:0030323)

........

Bilateral vertebral artery hypoplasia (HP:0030324)

Sister Nodes:

Vertebrobasilar dolichoectasia (HP:0020038)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030322	HP:0030322	Vertebral artery hypoplasia	0	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive		10
HP:0030322	HP:0030324	Bilateral vertebral artery hypoplasia	1	CL E G H
HP:0030322	HP:0030323	Unilateral vertebral artery hypoplasia	1	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive	.	10

Genes (1) :HES7

Diseases (1) :OMIM:613686

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.